|Institutional Source||Beutler Lab|
|Gene Name||tRNA aspartic acid methyltransferase 1|
|Is this an essential gene?||Possibly non essential (E-score: 0.411)|
|Stock #||R3735 (G1)|
|Chromosomal Location||13509014-13544668 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 13519873 bp|
|Amino Acid Change||Phenylalanine to Tyrosine at position 257 (F257Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000114572 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000124488] [ENSMUST00000144957]|
|Predicted Effect||noncoding transcript
|Predicted Effect||possibly damaging
AA Change: F257Y
PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: F257Y
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1108|
|Coding Region Coverage||
|Validation Efficiency||100% (71/71)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein responsible for the methylation of aspartic acid transfer RNA, specifically at the cytosine-38 residue in the anticodon loop. This enzyme also possesses residual DNA-(cytosine-C5) methyltransferase activity. While similar in sequence and structure to DNA cytosine methyltransferases, this gene is distinct and highly conserved in its function among taxa. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene have a decreased proportion of natural killer cells in the peripheral blood. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Trdmt1||
(F):5'- AGCTGGGAAACACAGTTCTTG -3'
(R):5'- GCCAGATACTGATGGAGTTTCC -3'
(F):5'- CTGGGAAACACAGTTCTTGTAGACAC -3'
(R):5'- CTGTTGAGCCACAAAAATATGCAG -3'